Variant report

Variant	rs4354648
Chromosome Location	chr10:49519947-49519948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49518947..49521091-chr10:49533089..49535117,2	K562	blood:
2	chr10:49518118..49521667-chr10:49532319..49534589,3	K562	blood:
3	chr10:49513387..49516033-chr10:49518059..49520914,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10745265	0.80[AFR][1000 genomes]
rs11101311	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259267	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17010433	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697960	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697978	1.00[ASN][1000 genomes]
rs17698002	1.00[ASN][1000 genomes]
rs17770456	1.00[ASN][1000 genomes]
rs17770535	1.00[ASN][1000 genomes]
rs17770554	1.00[ASN][1000 genomes]
rs1978997	1.00[ASN][1000 genomes]
rs1997365	0.80[AFR][1000 genomes]
rs35009243	1.00[ASN][1000 genomes]
rs3730156	1.00[ASN][1000 genomes]
rs3730157	0.88[EUR][1000 genomes]
rs57115982	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990560	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838674	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838676	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838695	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838696	0.88[EUR][1000 genomes]
rs61838706	0.86[EUR][1000 genomes]
rs61840551	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840552	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840553	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840555	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs724124	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7478030	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:49515600-49541400	Weak transcription	Lung	lung
3	chr10:49515800-49522200	Weak transcription	Aorta	Aorta
4	chr10:49516000-49521000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr10:49516000-49524600	Weak transcription	Stomach Mucosa	stomach
6	chr10:49516000-49525400	Weak transcription	Left Ventricle	heart
7	chr10:49516000-49525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:49516000-49525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:49516200-49524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:49516400-49521800	Weak transcription	Right Ventricle	heart
11	chr10:49516400-49525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:49516400-49525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:49516400-49525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:49516400-49525600	Weak transcription	Brain Anterior Caudate	brain
15	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
22	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:49516600-49525200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:49516600-49525400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
29	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
31	chr10:49516800-49524400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:49517200-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:49517200-49520800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:49517400-49520000	Enhancers	Fetal Heart	heart
35	chr10:49517600-49525400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:49517800-49522600	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:49518000-49520400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:49518000-49522400	Weak transcription	Brain Angular Gyrus	brain
40	chr10:49518000-49526800	Weak transcription	Gastric	stomach
41	chr10:49518000-49528800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:49518000-49536000	Weak transcription	Fetal Intestine Small	intestine
43	chr10:49518200-49520000	Weak transcription	K562	blood
44	chr10:49518200-49520400	Weak transcription	NHDF-Ad	bronchial
45	chr10:49518200-49520400	Weak transcription	NHLF	lung
46	chr10:49518200-49522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr10:49518200-49524200	Weak transcription	Fetal Kidney	kidney
48	chr10:49518200-49524400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr10:49518200-49527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:49518200-49542200	Weak transcription	HSMM	muscle

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